HsaINT0054742 @ hg38
Intron Retention
Gene
ENSG00000181090 | EHMT1
Description
euchromatic histone lysine methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:24650]
Coordinates
chr9:137752331-137754291:+
Coord C1 exon
chr9:137752331-137752408
Coord A exon
chr9:137752409-137754170
Coord C2 exon
chr9:137754171-137754291
Length
1762 bp
Sequences
Splice sites
5' ss Seq
CTGGTAATG
5' ss Score
5.67
3' ss Seq
CTGCCCGTTTGGTTCTCCAGAGT
3' ss Score
7.66
Exon sequences
Seq C1 exon
ATGGACGGGGAGTCCGAGGAGGAGCAGGAGTCCGTGGACACCGGGGAGGAGGAGGAAGGCGGTGACGAGTCTGACCTG
Seq A exon
GTAATGCCCAGCGCCTCCTCCTGCGTCTGTGCTGATGTAGAGGAGATGCAAAGACACCAGCGTCCTTCAGTTCTTTACCCAACAACCCTTGTTGCCTGAGCGCTCACCCATGTGCTTGGAGCTGGTCATGGTGATGGCCACAGATGGGTCCTGTCCCTGGCAAAGCCTCATGAGAAAGACACCGTGCAGAGTTGCAGCGCAGGGCTGGGCCTGGCACGGGGCTGCCCCAGCTGCGTGCTGGGTGGGGTGGAGTTGAGTGGCCTGTGGAGGTTCTCAGAGGGAGAGGGTGTGGTGGGAGCCGGCAGCAAGGACACCTGTTTGGGATTCCGCTGCATCGGCTGATGTGCGAGAAGGAAGGGCTGGATTTGAAGGTTTCCAGGTAGAACGGCAGAGGGAGAGGGTGTGGCGGGAGCCGGCAGCAAGGACAGCTGTTTGGGATTCCGCTGCATCGGCTGACGTGCGAGAAGGAAGGGCTGGATTTGAGGGTTTCCAGGTAGAATGGACAGAACTTTCTGGTGGTGAGGACTGGAGGGAAGAGGGGTTCTGCTCCGTCCCTACTGAAGCCTGTTATTCCTTGAGGAGGGTCCAGATCGGAATTGTGCACCCTGGTCTGCGGGAATTGGGTGTTGGAAATGGGTAAGAGCAGCGAGTCCCCAGGATGGAGCCTCAGGAAGCCCCCAGCCTGTGAGGGTTCCACAGGGGAGGAGAAGTTGGCTCCTGCTTCTGAGGAGGAGCTGTCTGTGCCGTGGGGGGAAAGCTCGGCAAGTTTGGGTCACATGAATTGGGAAATGCTCTGAAACAGGAGAAGTGGCTCACGGTGTGGGCTCATTACACCAGCGAGTGGGAGGAGGACACAGGGGCCGAGCAGCGAGTGGGAGGAGGACACGGGGGCCGTGGTGTTCGGCGATGAAGGGGTCTGTCTTTGGGTGGCAGAGGGGCAGCTAGATTTCCAGCAGCAGCAGCTTTGGGTGTGGCGCTTGCTGAAATTCTTCCCAAAAGTTTTGCCGTGCGGGGAGCACAGGGGAGCCGGGGCTGTGTGTGCTGCAGACAGGGCTCCCGGTACCGTCCTCACGTGGGACCCAACTCAGGAAGAAGGCTGCCCAGCAAAGGCCTTGTGCAGGGACATGTTCAGTTGGTCAGCGAGGCCCACGTGCTGCTGCTGTGCCTACCTTAAATGTCCCCCGCCCACTGTGGCCTGCACGTGGCCTCCTGTGGAGGGGTGGGGGCGCCTGCTGTGCATCCGTGTGTGACATGTGGCATGGATGCCCTTGCTGCATCCGGATTTTAGAAGCAGATGCTTAAAACATATCTTGAAATATTATAAGTTAATTACAGCCTCTGTCCTTGTTCTCTGTGTAGATCATTCATGTGGGTAGGTTCTGAAGCAAGCCGAGCGTTGATTGTCCCTTTTCTTGTGAGCGAGATGAACGGACCCTTTTCCTGAGCTTACTTATTTAGTTCCTGAGTAGAACTTTCCAATTTATTTATTCTTTTATGCCAAACTCAAATAAGATGGATACATTTCACTTTCTGCTTTTGTTTTGTTTTATCTCTAAAGGGACTGAGCTGAGAGAGTTAGGGAAAAGCGCAGGGTGCCTTTAAGCGTGTGACCCAGCAAAATGTCTACAAGTTAAGTTCACCGTTTAATTGAAGATCAAGACATAGCCAGTGTTCTGTTTTGCAAGAAAACACTTGTAGTGCTCTTGCCTTCCGTAGCTTCCTGTGCTTAGTGGTTTATATGCCTGCCCGTTTGGTTCTCCAG
Seq C2 exon
AGTTCGGAATCCAGCATTAAGAAGAAATTTCTCAAGAGGAAAGGAAAGACCGACAGTCCCTGGATCAAGCCAGCCAGGAAAAGGAGGCGGAGAAGTAGAAAGAAGCCCAGCGGTGCCCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090:ENST00000460843:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.913
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCGAGGAGGAGCAGGAGTC
R:
GCACCGCTGGGCTTCTTTCTA
Band lengths:
182-1944
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development